Varaico: Literature-Extracted Genetic Variants

WDR48

141 papers

RefSeq Summary

The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety ...

Pfam Domains

WD40aa 24–58UCSCWD domain, G-beta repeat

WD40aa 66–103UCSCWD domain, G-beta repeat

WD40aa 107–145UCSCWD domain, G-beta repeat

WD40aa 157–196UCSCWD domain, G-beta repeat

WD40aa 200–238UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 48

HGNC Alias Symbols

KIAA1449; P80; SPG60; Bun62

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001346225.2

p.D290H

c.868G>C

Surrounding Variants

1 paper

NM_020839.4

p.R249Q

c.746G>A

1 paper

NM_020839.4

p.R249*

c.745C>T

1 paper

NM_001346225.2

p.D300V

c.899A>T

1 paper

NM_020839.4

p.R235C

c.703C>T

1 paper

NM_020839.4

p.R287W

c.859C>T

3 papers

NM_020839.4

p.E293Q

c.877G>C

1 paper

NM_020839.4

p.A295T

c.883G>A

1 paper

NM_020839.4

p.D307D

c.921T>C

1 paper

NM_020839.4

p.P309S

c.925C>T

1 paper

NM_020839.4

p.A334V

c.1001C>T

1 paper

NM_020839.4

p.Q355E

c.1063C>G

1 paper

NM_020839.4

p.Q355*

c.1063C>T